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A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor

Poikiloderma with Neutropenia (PN) is an autosomal recessive genodermatosis characterized by early-onset poikiloderma, pachyonychia, hyperkeratosis, bone anomalies and neutropenia, predisposing to myelodysplasia. The causative C16orf57/USB1 gene encodes a conserved phosphodiesterase that regulates t...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Sci Rep
Main Authors: Colombo, Elisa A., Carra, Silvia, Fontana, Laura, Bresciani, Erica, Cotelli, Franco, Larizza, Lidia
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2015
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4629135/
https://ncbi.nlm.nih.gov/pubmed/26522474
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep15814
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